Defective ALG2 causes CDG-1i

Stable Identifier
R-HSA-4549349
Type
Pathway
Species
Homo sapiens
Synonyms
Defective ALG1 causes ALG2-CDG
ReviewStatus
5/5
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Defective ALG2 causes CDG-1i
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Alpha 1,3/1,6 mannosyltransferase ALG2 (ALG2) is a bifunctional mannosyltransferase normally tranfers a mannose moiety to the lipid linked oligosaccharide (LLO aka N glycan precursor) which is required for subsequent N glycosylation of proteins. Defects in ALG2 can cause congenital disorder of glycosylation 1i (ALG2-CDG, previously known as CDG1i; MIM:607906), a multisystem disorder characterised by under glycosylated serum glycoproteins. CDG type 1 diseases result in a wide phenotypic spectrum, from poor neurological development, psychomotor retardation and dysmorphic features to hypotonia, coagulation abnormalities and immunodeficiency (Thiel et al. 2003). Defect in ALG2 can also cause congenital myasthenic syndrome (ALG2-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al. 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG2-CMS include p.V68G and p.72_75delinsSPR (Cossins et al. 2013).
Literature References
PubMed ID Title Journal Year
12684507 A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

Braulke, T, Körner, C, Lehle, L, Grzmil, M, Peng, J, Kohlschütter, A, von Figura, K, Thiel, C, Hasilik, M, Schwarz, M

J Biol Chem 2003
23404334 Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Seidhamed, MZ, Salih, MA, Cossins, J, Laval, S, Finlayson, S, Belaya, K, Carboni, N, Maxwell, S, Liu, WW, Zoltowska, K, Hicks, D, Farsani, GT

Brain 2013
Participants
Events
Participates
as an event of
Disease
Authored
Jassal, B  (2013-09-12)
Reviewed
Belaya, K  (2014-10-31)
Created
Jassal, B  (2013-09-12)
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